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Thoalnoon, O. A, Kareem, A. A, Hammoodi, H. Z. (1402). Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed. سامانه مدیریت نشریات علمی, 78(2), 667-673. doi: 10.22092/ari.2022.359480.2431
O. A Thoalnoon; A. A Kareem; H. Z Hammoodi. "Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed". سامانه مدیریت نشریات علمی, 78, 2, 1402, 667-673. doi: 10.22092/ari.2022.359480.2431
Thoalnoon, O. A, Kareem, A. A, Hammoodi, H. Z. (1402). 'Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed', سامانه مدیریت نشریات علمی, 78(2), pp. 667-673. doi: 10.22092/ari.2022.359480.2431
Thoalnoon, O. A, Kareem, A. A, Hammoodi, H. Z. Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed. سامانه مدیریت نشریات علمی, 1402; 78(2): 667-673. doi: 10.22092/ari.2022.359480.2431

Neurotransmitters Disorders with Mild Hyperphenylalaninemia: The Ones That Should Not Be Missed

Archives of Razi Institute
مقاله 21، دوره 78، شماره 2، خرداد و تیر 2023، صفحه 667-673    اصل مقاله (393.79 K)
نوع مقاله: Original Articles
شناسه دیجیتال (DOI): 10.22092/ari.2022.359480.2431
نویسندگان
O. A Thoalnoon1؛ A. A Kareem2؛ H. Z Hammoodi* 2
1Pediatric Neurologist, Children Welfare Teaching Hospital, Baghdad, Iraq
2Consultant Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq
چکیده
Phenylalanine (PHE) is an essential amino acid. Dietary PHE converts to tyrosine by phenylalanine hydroxylase (PAH) activity. Phenylketonuria (PKU) is an autosomal-recessive disorder resulting from PAH enzyme deficiency. Elevations of PHE in plasma are classified based on the degree of enzyme deficiency into classic PKU (PHE≥1200 μmol/l), mild PKU (PHE>600 μmol/l and <1200 μmol/l), and non-PKU-hyperphenylalaninemia (HPA) or mild hyperphenylalaninemia (MHP) (PHE≤600 μmol/l). This is a single-center study of consecutive patients managed at the Pediatric Neurology Department and the outpatient clinic at Children’s Welfare Teaching Hospital, Medical City, Baghdad, Iraq, from the 1st of October 2019 to the 1st of October 2020. Five patients were selected who were proven to have non-PKU-HPA (PHE<600 µmol/L) confirmed by the high-performance liquid chromatography analysis and assured to have sapropterin response by the sapropterin loading test which showed >30% decrease in PHE level. All patients presented with a neurological complaint, they were between three months and 15 years, and they were treated with sapropterin, Levodopa (L-Dopa), and 5-hydroxytryptamine (5-HT). The study included the demographic and clinical profile, biochemical response to sapropterin, and clinical response to treatment according to the development quotient. The five patients enrolled in this study had a gross motor developmental delay as their main symptom. One case also had a seizure and dystonia, another had a fluctuation of symptoms, four had a consanguineous marriage, and two had a family history of the same condition. Moreover, all cases had a higher than 30% decrease in PHE level by the tetrahydrobiopterin (BH4) loading test, and all of them showed significant clinical improvements after treatment except for one that showed only a moderate improvement. The BH4 therapy significantly enhanced dietary PHE tolerance and permitted a PHE-free medical formula to be discontinued in all patients with PHE within an achieved therapeutic target (120-300 μM]. MHP is not a mild disease as it may be related to neurotransmitter disorders. Sapropterin, L-DOPA, and 5-HT are always used for patients suspected of having neurotransmitter diseases, particularly those with MHP.
کلیدواژه‌ها
BH4 loading test؛ Mild hyperphenylalaninemia؛ Neurotransmitters Tetrahydrobiopterin
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مراجع
  1. Oleg AS, Charles PV. Nelson textbook of pediatric. 2020.
  2. Burgard P, Lachmann RH, Walter J. Hyperphenylalaninaemia. In: Saudubray J-M, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin, Heidelberg: Springer Berlin Heidelberg; 2016. p. 251-63.
  3. Perez-Duenas B, Vilaseca MA, Mas A, Lambruschini N, Artuch R, Gomez L, et al. Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem. 2004;37(12):1083-90.
  4. Belanger-Quintana A, Garcia MJ, Castro M, Desviat LR, Perez B, Mejia B, et al. Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin. Mol Genet Metab. 2005;86(1):61-6.
  5. Kareem AA, Al-Auqbi TFR, Hammoodi HZ, Shreef HR, Sallih MM. Significance of tetrahydrobiopterin in management of hyperphenylalaninemia. Iraqi J Community Med. 2020;33(1):1.
  6. Matalon R, Koch R, Michals-Matalon K, Moseley K, Surendran S, Tyring S, et al. Biopterin responsive phenylalanine hydroxylase deficiency. Genet Med. 2004;6(1):27-32.
  7. Highland K. PKU and BH4. Advances in Phenylketonuria and Tetrahydrobiopterin. In: Blau N, editor. Advances in Phenylketonuria and Tetrahydrobiopterin: SPS Publications; 2006.
  8. Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr. 1999;135(3):375-8.
  9. Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias and Organic Acidemias. 6th ed: Swaiman's Pediatric Neurology Principles and Practice; 2018.
  10. Trefz FK, Belanger-Quintana A. Sapropterin dihydrochloride: a new drug and a new concept in the management of phenylketonuria. Drugs Today (Barc). 2010;46(8):589-600.
  11. Regier D, Greene C. Phenylalanine Hydroxylase Deficiency. In: Adam M, Ardinger H, Pagon R, editors. GeneReviews. University of Washington, Seattle: Seattle (WA); 2000.
  12. Campistol J, Gassio R, Artuch R, Vilaseca MA, Unit PKUF-u. Neurocognitive function in mild hyperphenylalaninemia. Dev Med Child Neurol. 2011;53(5):405-8.
  13. Leuret O, Barth M, Kuster A, Eyer D, de Parscau L, Odent S, et al. Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria. J Inherit Metab Dis. 2012;35(6):975-81.
  14. Muntau AC, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, et al. Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002;347(26):2122-32.
  15. Al Riyami S, Al Maney M, Joshi SN, Bayoumi R. Detection of Inborn Errors of Metabolism using Tandem Mass Spectrometry among High-risk Omani Patients. Oman Med J. 2012;27(6):482-5.
  16. Yadav GC, Reavey PC. Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital. J Inherit Metab Dis. 1988;11(3):277-84.
  17. Thijeel RF. The Prevalence of Phenylketonuria and other metabolic diseases in sick Iraqi children; the importance of the newborn screening program. J Fac Med Baghdad. 2013;55(3):214-8.
  18. Opladen T, Lopez-Laso E, Cortes-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, et al. Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies. Orphanet J Rare Dis. 2020;15(1):202.
  19. Sadek AA, Hassan MH, Mohammed NA. Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years. Neuropsychiatr Dis Treat. 2018;14:2551-61.
  20. Opladen T, Hoffmann GF, Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis. 2012;35(6):963-73.
  21. Michals-Matalon K, Bhatia G, Guttler F, Tyring SK, Matalon R. Response of phenylketonuria to tetrahydrobiopterin. J Nutr. 2007;137(6):1564-7.
  22. Zurfluh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, et al. Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Hum Mutat. 2008;29(1):167-75.
  23. Swoboda KJ, Walker MA. Neurotransmitter-Related disorders: Swaiman's Pediatric Neurology Principles and Practice; 2018.
  24. Vernon HJ, Koerner CB, Johnson MR, Bergner A, Hamosh A. Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria. Mol Genet Metab. 2010;100(3):229-33.
  25. Cerone R, Andria G, Giovannini M, Leuzzi V, Riva E, Burlina A. Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency. Adv Ther. 2013;30(3):212-28.
  26. Christ SE, Moffitt AJ, Peck D, White DA. The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria. Neuroimage Clin. 2013;3:539-47.
  27. Lindegren ML, Krishnaswami S, Reimschisel T, Fonnesbeck C, Sathe NA, McPheeters ML. A Systematic Review of BH4 (Sapropterin) for the Adjuvant Treatment of Phenylketonuria. JIMD Rep. 2013;8:109-19.
  1. Ponzone A, Guardamagna O, Spada M, Ponzone R, Sartore M, Kierat L, et al. Hyperphenylalaninemia and pterin metabolism in serum and erythrocytes. Clin Chim Acta. 1993;216(1-2):63-71.
  2. Khatami S, Dehnabeh SR, Zeinali S, Thony B, Alaei M, Salehpour S, et al. Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. JIMD Rep. 2017;32:7-14.
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